Canonical Allele Identifier: PA1139688516
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 582729
ClinVar RCV Id: RCV000706870
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Thr369Met
CA7644829
NM_001318825.2:c.1106C>T